41. The Alkaptonuria Society - Patient UK The alkaptonuria Society Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/27000827/

The Alkaptonuria Society 12 High Beeches Childwall Liverpool Tel: 0151 737 1862 Web: www.alkaptonuria.info The Alkaptonuria Society aim is to create an information and support network for those people diagnosed with the condition. Their job is to find the latest news, research and treatments and provide you with the best information they can. Checked December 2004 Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look... Related pages in Patient UK Patient Plus Alkaptonuria Other - Useful resources Pictures, diagrams, photos, images, etc. Evidence based medicine Online textbooks and journals Guidelines ... Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin. Health Insurance . Visit the Patient UK finance channel for quotes on health insurance and other financial products such as mortgages, life insurance, etc.

42. Alkaptonuria - Patient UK alkaptonuria Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40002334/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Alkaptonuria Synonyms: AKU, Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis This is an autosomal recessive condition of homogentisic acid oxidase deficiency, resulting from a set of inherited alleles on chromosome 3 (3q21-q23 - there are about 80 chromosomal variations). The deficiency results in deposits of pigmented polymers of homogentisic acid in many tissues including cartilage, tendons, nail beds, eyelids, cheeks, axillae, genital regions, eardrums, larynx and buccal mucosa. The name (alkaptonuria) originates from the dark colour of the urine due to the high level of 2,5-dehydroxyphenylacetic acid from the oxidisation and polymerisation of the homogentisic acid. Expression of the disease is multifactorial; a slightly raised occurrence of HLA-DR7 has been found. The main effect of the disease is to loosen the cross linking between collagen fibres and a lot of the pathology arises because of this.

43. Alkaptonuria Information Diseases Database alkaptonuria,Homogentisate 1,2dioxygenase deficiency,Homogentisic acid oxidase deficiency,Ochronosis, Disease Database Information. http://www.diseasesdatabase.com/ddb409.htm

Diseases Database Index Sponsors Contact ... Previous Page Alkaptonuria information Search 4 synonyms or equivalents were found. Alkaptonuria aka/or Homogentisate 1,2-dioxygenase deficiency aka/or Homogentisic acid oxidase deficiency aka/or Ochronosis may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Alkaptonuria: Definition(s) via UMLS Code translations and terms via UMLS Alkaptonuria: specific web sites Send Alkaptonuria to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-08 20:01:53 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Content is not asserted complete or error free, please see also our

44. Diagnose-Me: Condition: Ochronosis / Alkaptonuria The Analyst (TM) Comprehensive Online Evaluations For Those Seeking Answers To Their Health Problems. Travel-Free Results, Now! http://www.diagnose-me.com/cond/C451501.html

Home FAQ Start The Analyst Ochronosis / Alkaptonuria Signs, symptoms and indicators Treatment recommendations Ochronosis is the muscoskeletal manifestation of alkaptonuria - a rather rare (one in 200,000 births) inherited disorder of protein metabolism characterized by an inability of the body to metabolize the amino acids tyrosine and phenylalanine . It affects especially the large joints (hip, knees and vertebral column) by a progressive degenerative arthrosis The outward signs are the ocular (eye) and the skin pigmentations, the genito-urinary calculi (stones) and cardiovascular ochronosis (especially the aortic valve). The symptoms mostly begin within the third or fourth decade. It was Scribonius who described the first known case of ochronosis in 1584. He mentioned a schoolboy who passed urine black as ink. In 1902, Albrecht and Zdareck discovered the link with alkaptonuria. The incidence of alkaptonuria is 1 per million with the highest prevalence in Slovakia by inbreeding. [ Laoussadi S., Menkes C.-J. Arthroses D’Etiologie rare. Rev. Rhum. Ed. Fr., nr 9 bis, Vol. 61, Nov. 1994 There is no cure for ochronotic arthropathy. The

45. Alkaptonuria alkaptonuria and Ochronosis information and support An alkaptonuria and Ochronosis Notebook of information plus a Hotline for messages and support. http://www.reference.com/Dir/Health/Conditions_and_Diseases/A/Alkaptonuria/

Dictionary Thesaurus Encyclopedia Web Home Premium: Sign up Login YOUR AD HERE Dictionary ... Encyclopedia - Web Directory Web Directory Top Health Conditions and Diseases A / Alkaptonuria Genetic Alkaptonuria and Ochronosis information and support An Alkaptonuria and Ochronosis Notebook of information plus a Hotline for messages and support. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Lexico Publishing Group, LLC ... Contact Us

46. University Of Miami School Of Medicine - Glossary - Alkaptonuria Where is the alkaptonuria gene and why is the disease unique in genetics (the Parents of a person with alkaptonuria each have one alkaptonuric gene and http://www.med.miami.edu/glossary/art.asp?articlekey=7804

47. University Of Miami School Of Medicine - Glossary - Alkaptonuria alkaptonuria A genetic metabolic disorder due to deficiency of the enzyme (alkaptonuria was easily diagnosed among the nomadic Bedouin peoples because http://www.med.miami.edu/glossary/art.asp?articlekey=39942

48. Alkaptonuria alkaptonuria Society. This Web site has been set up to provide information and support for those diagnosed with alkaptonuria. Brief information is provided http://omni.ac.uk/browse/mesh/D000474.html

low graphics Alkaptonuria broader: Amino Acid Metabolism, Inborn Errors other: Phenylketonurias Alkaptonuria Society This Web site has been set up to provide information and support for those diagnosed with alkaptonuria. Brief information is provided about its causes, symptoms and complications. News and articles on clinical management of the condition are available, and there is also a discussion page and links to other related sites. Patient Education Amino Acid Metabolism, Inborn Errors Alkaptonuria Last modified: 02 Sep 2005

49. NEJM -- Natural History Of Alkaptonuria Original Article from The New England Journal of Medicine Natural History of alkaptonuria. http://content.nejm.org/cgi/content/short/347/26/2111

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 347:2111-2121 December 26, 2002 Number 26 Next Natural History of Alkaptonuria Chanika Phornphutkul, M.D., Wendy J. Introne, M.D., Monique B. Perry, M.D., Isa Bernardini, M.Ed., Mark D. Murphey, M.D., Diana L. Fitzpatrick, B.A., Paul D. Anderson, B.A., Marjan Huizing, Ph.D., Yair Anikster, M.D., Lynn H. Gerber, M.D., and William A. Gahl, M.D., Ph.D. Full Text PDF PDA Full Text PowerPoint Slide Set ... PubMed Citation ABSTRACT Background Alkaptonuria, caused by mutations in the HGO gene and a deficiency of homogentisate 1,2-dioxygenase, results in an accumulation of homogentisic acid (HGA), ochronosis, and destruction of connective tissue. There is no effective therapy for this disorder, although nitisinone inhibits the enzyme that produces HGA. We performed a study to delineate the natural history of alkaptonuria. Methods We evaluated 58 patients with alkaptonuria (age range, 4 to 80 years), using clinical, radiographic, biochemical, and molecular methods. A radiographic scoring system was devised

50. NEJM -- Alkaptonuria Correspondence from The New England Journal of Medicine alkaptonuria. http://content.nejm.org/cgi/content/short/348/14/1408

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 348:1408 April 3, 2003 Number 14 Next Alkaptonuria Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings. Full Text PDF PDA Full Text Add to Personal Archive ... PubMed Citation To the Editor: In alkaptonuria, discussed by Phornphutkul et al. (Dec. 26 issue), tissue injury is induced by a product benzoquinone acetic acid (BQA). The oxidation of HGA to BQA is catalyzed by polyphenol oxidase. Accordingly, therapy for alkaptonuria should be aimed at reducing BQA levels through the inhibition of 4-hydroxyphenyl-pyruvate dioxygenase (i.e., with the use of nitisinone). Nitisinone can reduce HGA production while increasing levels of plasma tyrosine and phenylalanine. Thus, measuring the BQA level during a trial with nitisinone would be helpful. As described by Wolff Full Text of this Article HOME SEARCH CURRENT ISSUE ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and

51. Alkaptonuria - Alegent Health Serving Eastern Nebraska And Southwest Iowa alkaptonuria courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley, http://www.alegent.com/11080.cfm

@import url(default.css); Back to Health Library Print This Page Email to a Friend Alkaptonuria Definition: Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Causes, incidence, and risk factors: Alkaptonuria is an autosomal recessive inherited disorder. In affected individuals, an amino acid known as tyrosine is not properly metabolized, due to a defect in an enzyme called homogentisic acid oxidase. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored. Symptoms: Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

52. Alkaptonuria - St. Joseph Mercy, Ann Arbor Michigan alkaptonuria St. Joseph Mercy Health System Hospitals serving Ann Arbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, Oakland County, http://www.sjmercyhealth.org/12388.cfm

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend National Organization for Rare Disorders, Inc. Alkaptonuria Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Alkaptonuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Alcaptonuria (alternate spelling for Alkaptonuria) Alkaptonuric Ochronosis Hereditary Alkaptonuria Homogentisic Acid Oxidase Deficiency Homogentisic Acidura Ochronosis Ochronotic Arthritis Disorder Subdivisions None General Discussion Alkaptonuria is a rare hereditary disorder in which homogentisic acid accumulates in the body and destroys connective tissue and bone, creating a condition called ochronosis. Symptoms generally begin during the second or third decade of life, and may progress to incapacitating bone and joint disease by the sixth to eighth decade of life. The condition is characterized by the excretion of large volumes of dark colored urine. The darkened urine is the result of the exposure to the air of homogentisic acid that accumulates in the urine. Resources CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, Intl CW2 6BG

53. Alkaptonuria - Information / Diagnosis / Treatment / Prevention A brief discussion about this disease new window alkaptonuria and Ochronosis Description A detailed look at these......new window alkaptonuria http://www.healthcyclopedia.com/genetic-disorders/alkaptonuria.html

Home Health cyclopedia Quotable: "I have always wished that my computer would be as easy to use as my telephone. My wish has come true: I no longer know how to use my telephone." All Topics by Category The Complete Guide to Health Care Resources on the Internet Health Conditions A-Z Gurus ... genetic disorders > alkaptonuria Alkaptonuria Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News MEDLINE Database ... Web Directory: Related Topics: Chronic Illness Nutrition and Metabolism Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "alkaptonuria" Health News: Search millions of published articles for news on Alkaptonuria Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles.

54. Alkaptonuria alkaptonuria. alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups national coalition of consumers, professionals and genetic support http://www.ability.org.uk/Alkaptonuria.html

Our Aims Services Stats ... Z Alkaptonuria Alkaptonuria and Ochronosis Notebook Alliance of Genetic Support Groups - national coalition of consumers, professionals and genetic support groups to voice the common concerns of children, adults and families living with, and at risk for, genetic conditions. Online Genetic Syndrome Support Groups - Sites are listed alphabetically by disease/conditon. Peter's Anomaly Support Group - An online support group for people dealing with Peter's Anomaly Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

55. Alkaptonuria - General Practice Notebook alkaptonuria is caused by deficiency of homogentisic acid oxidase which converts homogentisic acid to acetoacetic acid. Homogentisic acid which accumulates http://www.gpnotebook.co.uk/cache/-1181089792.htm

alkaptonuria Alkaptonuria is caused by deficiency of homogentisic acid oxidase which converts homogentisic acid to acetoacetic acid. Homogentisic acid which accumulates in the urine oxidises on standing, turning the urine black. The tissues may become darkened, described as ochronosis, and there may be associated degenerative changes. This condition, in contrast to phenylketonuria, has no effect on intelligence. However, cartilage deposition may result in degenerative arthritis. Click here for more information...

56. Alkaptonuria - Washington DC alkaptonuria Washington Hospital Center is located in Washington DC. http://www.whcenter.org/15712.cfm

cddcodebase = "navtools/topmenu/";cddcodebase367050 = "navtools/topmenu/"; Article Manager Home Back to Health Library Print This Page ... Email to a Friend Alkaptonuria Definition: Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Causes, incidence, and risk factors: Alkaptonuria is an autosomal recessive inherited disorder. In affected individuals, an amino acid known as tyrosine is not properly metabolized, due to a defect in an enzyme called homogentisic acid oxidase. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored. Symptoms: Infant/child: Family history of alkaptonuria Urine in diaper may darken after several hours (can become almost black) Adult: Progressive arthritis, especially of the spine

57. Alkaptonuria Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/alkaptonuria.html

Orphanet database access Alkaptonuria Direct access to data Summary Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures lead to unusual pigmentation of the skin (brown/black) overlying cartilaginous structures. On occasion pigment is also seen in the sclera, in sweat after oxidation, and classically, in urine when left standing at room temperature. * author : Orphanet editorial team (nov. 1999) * Clinical signs Autosomal recessive inheritance Increased skin pigmentation diffuse Metabolism of aminoacids abnormal Restricted joint mobility Kidney stones Vascular hypertension Update : 04/09/2005 Orphanet database access

58. Alkaptonuria In addition, a mutation causing alkaptonuria has been described in mouse and mapped to Analysis of the alkaptonuria mutations and polymorphisms has also http://www.alkaptonuria.cib.csic.es/alkaptonuria.htm

AKU database Alkaptonuria Alkaptonuria (AKU; McKusick nº ) is a rare autosomal recessive disorder of both historical and medical interest. It represents a classical example of a discrete biochemical lesion resulting from a single gene deficiency that gives rise to a degenerative disease (O'Brien et al., 1963). AKU patients are deficient for homogentisate 1,2 dioxygenase activity (HGO, EC 1.13.11.5 (La Du et al., 1958). This enzyme deficiency results in the accumulation of homogentisic acid (HGA), an intermediary metabolite in phenylalanine and tyrosine catabolism. In AKU patients, HGA is excreted in large amounts into the urine, which darkens on standing. This staining of the urine, which can be detected from early childhood, is the first and best known manisfestation of the disease and the one that brought it to clinical attention. Over the years, benzoquinone acetic acid (an oxidation product of HGA) is deposited either directly or as a polymer into connective tissues, causing their pigmentation (ochronosis) and eventually leading to serious arthropathy (Reviewed in La Du, 1995). AKU was the first disease to be interpreted as a single gene trait. In 1902 Garrod reported the mode of inheritance in AKU (

59. Disease - Alkaptonuria - Hartford, Connecticut Disease alkaptonuria - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease, http://www.saintfranciscare.com/1874.cfm

@import url(main.css); About Us Health Information Health Focus Todays Breast Health News ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Alkaptonuria Definition: Alkaptonuria is a rare inherited disorder of metabolism characterized by urine which turns black when exposed to air. Another characteristic is the development of arthritis in adulthood. Alternative Names: Alcaptonuria; Homogentisic acid oxidase deficiency; Ochronosis Causes And Risk: Alkaptonuria is an autosomal recessive inherited disorder. In affected individuals, an amino acid known as tyrosine is not properly metabolized, due to a defect in an enzyme called homogentisic acid oxidase. Because of the defect, homogentisic acid is excreted in the urine and turns a brown color upon exposure to air. This is the result of a dark pigment with an ochre color (earthy red or yellow), which led to the name ochronosis. The bones and cartilage of the body can be brown colored. Prevention: Like most genetic diseases, alkaptonuria itself cannot be prevented, but some of the manifestations, such as arthritis, can be minimized by treatment.

60. Netter Medical Images - Search Results For Alkaptonuria Netterimages.com The most trusted name in medical illustration PRICING ARTISTS REGISTER LOGIN. SEARCH RESULTS. 1 IMAGES IN SELECTION PAGE 1 OF 1 http://www.netterimages.com/image/list.htm?s=Alkaptonuria

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 97    Back | 1  | 2  | 3  | 4  | 5  | Next 20